UNIVERSITY COLLEGE DUBLIN researchers are developing a new therapy which could potentially transform the lives of people with the painful skin disease, EB.

Scientists at the Dublin college’s Charles Institute of Dermatology are working on a gene-editing system to fix the mutation in the gene that causes butterfly skin.

Claudia Scanlon with the research team at the Charles Institute of Dermatology

And a teenage girl with the condition has praised their efforts as “absolutely amazing”.

Claudia Scanlon, 17, said their efforts have given her new hope for the future.

“The research that is going on in UCD is absolutely amazing because it is going towards, hopefully, one day finding a cure for patients living with EB and making my quality of life so much better.”

Her mother, Liz, was similarly hopeful.

She said: “This work offers great hope to everyone who lives with EB and their families that at some point in the future, EB will no longer be as life-changing or limiting as it is today.”

Gene editing can change the DNA of a cell to repair disease-causing mutations.

Mother and daughter were joined by Dr Sinead Hickey, head of research at Debra Ireland, which provides day-to-day help and support for EB patients and their families, as well as campaigning to find better treatments and possible cures for the condition.

Donations to Debra Ireland from Late Late Show viewers topped 400,000 euro after Claudia appeared on the show in April with her mother and rugby star, Johnny Sexton.

“It gives our families huge hope to see ongoing research into new treatments, especially for rare diseases, to give people like Claudia a better quality of life,” said Dr Hickey.

One of the researchers in the UCD Charles Institute of Dermatology, Dr Irene Lara-Saez, explained that their work focused on finding “smart scissors” that would cut the damaged gene which causes the condition and thereby allow patients to heal.

“We work very closely with Debra Ireland and people with EB to ensure their needs are at the heart of our research,” she said.


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